Incidental Mutation 'IGL02530:Mlh1'
| ID |
297266 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mlh1
|
| Ensembl Gene |
ENSMUSG00000032498 |
| Gene Name |
mutL homolog 1 |
| Synonyms |
1110035C23Rik, colon cancer, nonpolyposis type 2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02530
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
111057296-111100854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111058943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 694
(Y694H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035078]
[ENSMUST00000035079]
[ENSMUST00000098340]
[ENSMUST00000135218]
|
| AlphaFold |
Q9JK91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035078
|
| SMART Domains |
Protein: ENSMUSP00000035078
Gene: ENSMUSG00000032497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
340 |
2.5e-106 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035079
AA Change: Y694H
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000035079
Gene: ENSMUSG00000032498
AA Change: Y694H
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
23 |
158 |
4.57e-1 |
SMART |
|
DNA_mis_repair
|
216 |
335 |
1.08e-44 |
SMART |
|
low complexity region
|
363 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
454 |
N/A |
INTRINSIC |
|
Pfam:Mlh1_C
|
504 |
760 |
8.3e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098340
|
| SMART Domains |
Protein: ENSMUSP00000095944
Gene: ENSMUSG00000032497
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
31 |
326 |
2.7e-122 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128795
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200145
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced pairing in meiotic prophase I and produce no mature germ cells. Mutants also display increased microsatellite instability and a predisposition for developing intestinal and other tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,559,124 (GRCm39) |
F305L |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,291,398 (GRCm39) |
H1345R |
probably benign |
Het |
| Bloc1s5 |
A |
T |
13: 38,787,859 (GRCm39) |
M175K |
probably damaging |
Het |
| C9 |
T |
A |
15: 6,526,613 (GRCm39) |
M549K |
probably benign |
Het |
| Cfap52 |
A |
G |
11: 67,845,007 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
A |
T |
6: 46,998,670 (GRCm39) |
K907N |
possibly damaging |
Het |
| Cox8c |
T |
A |
12: 102,865,752 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp26b1 |
A |
T |
6: 84,551,294 (GRCm39) |
N307K |
possibly damaging |
Het |
| Cyp2s1 |
T |
C |
7: 25,515,849 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
G |
A |
14: 67,061,847 (GRCm39) |
T253I |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,252,293 (GRCm39) |
I835F |
probably damaging |
Het |
| Eif5a |
A |
T |
11: 69,809,989 (GRCm39) |
H51Q |
possibly damaging |
Het |
| Fancd2 |
T |
A |
6: 113,539,422 (GRCm39) |
I637N |
probably damaging |
Het |
| Gpr173 |
T |
A |
X: 151,130,092 (GRCm39) |
H127L |
probably damaging |
Het |
| Klc3 |
T |
C |
7: 19,130,969 (GRCm39) |
I203V |
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,390,060 (GRCm39) |
K352E |
probably benign |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Med12l |
G |
T |
3: 58,984,510 (GRCm39) |
D483Y |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,935,160 (GRCm39) |
R219G |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,450,646 (GRCm39) |
|
probably benign |
Het |
| Or2y1f |
A |
T |
11: 49,184,555 (GRCm39) |
M136L |
possibly damaging |
Het |
| Or8k33 |
C |
T |
2: 86,384,224 (GRCm39) |
M81I |
possibly damaging |
Het |
| Pax3 |
A |
T |
1: 78,098,424 (GRCm39) |
S322T |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Plekhb2 |
T |
C |
1: 34,916,022 (GRCm39) |
V187A |
possibly damaging |
Het |
| Pot1a |
A |
T |
6: 25,794,592 (GRCm39) |
F31I |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,613,720 (GRCm39) |
|
probably benign |
Het |
| Scmh1 |
T |
A |
4: 120,385,343 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,560,522 (GRCm39) |
T1251A |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,001,634 (GRCm39) |
V148A |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,598,969 (GRCm39) |
*1524W |
probably null |
Het |
| Son |
C |
A |
16: 91,455,359 (GRCm39) |
P1369T |
possibly damaging |
Het |
| Spp2 |
T |
A |
1: 88,338,868 (GRCm39) |
L25* |
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,090,976 (GRCm39) |
Q1405R |
probably damaging |
Het |
| Traf3ip2 |
G |
T |
10: 39,522,902 (GRCm39) |
A463S |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,960,617 (GRCm39) |
E27G |
probably damaging |
Het |
| Vmn2r12 |
C |
T |
5: 109,233,858 (GRCm39) |
V785I |
probably damaging |
Het |
| Zc3h8 |
A |
G |
2: 128,785,846 (GRCm39) |
|
probably benign |
Het |
| Zfp57 |
T |
A |
17: 37,317,056 (GRCm39) |
S45T |
probably damaging |
Het |
|
| Other mutations in Mlh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Mlh1
|
APN |
9 |
111,081,980 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02811:Mlh1
|
APN |
9 |
111,100,582 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02892:Mlh1
|
APN |
9 |
111,082,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03394:Mlh1
|
APN |
9 |
111,097,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
andalusia
|
UTSW |
9 |
111,100,478 (GRCm39) |
makesense |
probably null |
|
|
andalusia2
|
UTSW |
9 |
111,100,591 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
andalusia3
|
UTSW |
9 |
111,058,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
ANU23:Mlh1
|
UTSW |
9 |
111,081,980 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
PIT4495001:Mlh1
|
UTSW |
9 |
111,076,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0496:Mlh1
|
UTSW |
9 |
111,070,624 (GRCm39) |
missense |
probably benign |
|
|
R0723:Mlh1
|
UTSW |
9 |
111,100,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:Mlh1
|
UTSW |
9 |
111,076,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Mlh1
|
UTSW |
9 |
111,057,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Mlh1
|
UTSW |
9 |
111,058,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Mlh1
|
UTSW |
9 |
111,086,092 (GRCm39) |
intron |
probably benign |
|
|
R1885:Mlh1
|
UTSW |
9 |
111,087,624 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1992:Mlh1
|
UTSW |
9 |
111,057,631 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2186:Mlh1
|
UTSW |
9 |
111,087,634 (GRCm39) |
unclassified |
probably benign |
|
|
R2680:Mlh1
|
UTSW |
9 |
111,065,085 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4693:Mlh1
|
UTSW |
9 |
111,084,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Mlh1
|
UTSW |
9 |
111,068,866 (GRCm39) |
missense |
probably benign |
|
|
R5007:Mlh1
|
UTSW |
9 |
111,100,478 (GRCm39) |
makesense |
probably null |
|
|
R5130:Mlh1
|
UTSW |
9 |
111,058,906 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5166:Mlh1
|
UTSW |
9 |
111,070,581 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5265:Mlh1
|
UTSW |
9 |
111,100,591 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
R5481:Mlh1
|
UTSW |
9 |
111,058,905 (GRCm39) |
splice site |
probably null |
|
|
R5483:Mlh1
|
UTSW |
9 |
111,060,126 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5602:Mlh1
|
UTSW |
9 |
111,081,946 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5658:Mlh1
|
UTSW |
9 |
111,076,448 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5890:Mlh1
|
UTSW |
9 |
111,057,563 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6810:Mlh1
|
UTSW |
9 |
111,070,626 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7607:Mlh1
|
UTSW |
9 |
111,058,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Mlh1
|
UTSW |
9 |
111,081,931 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7894:Mlh1
|
UTSW |
9 |
111,059,145 (GRCm39) |
splice site |
probably null |
|
|
R7912:Mlh1
|
UTSW |
9 |
111,090,581 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7995:Mlh1
|
UTSW |
9 |
111,064,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Mlh1
|
UTSW |
9 |
111,085,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8280:Mlh1
|
UTSW |
9 |
111,078,286 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8804:Mlh1
|
UTSW |
9 |
111,093,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Mlh1
|
UTSW |
9 |
111,060,013 (GRCm39) |
missense |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation